Canonical Allele Identifier: CA925741214

Gene: NEBL

Linked Data

• dbSNP Id: rs1839933893
• gnomAD v3: 10-21147233-C-T
• gnomAD v4: 10-21147233-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.21147233C>T , CM000672.2:g.21147233C>T	GRCh38
NC_000010.10:g.21436162C>T , CM000672.1:g.21436162C>T	GRCh37
NC_000010.9:g.21476168C>T	NCBI36
NG_017092.1:g.31955G>A , LRG_411:g.31955G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000675700.1:n.187+25150G>A
ENST00000675702.1:n.443+25150G>A
ENST00000675747.1:n.224+25150G>A
ENST00000417816.2:c.164+25150G>A	ENSP00000393896.2:n.164+25150G>A
NM_001173484.1:c.164+25150G>A	NP_001166955.1:n.164+25150G>A
NM_213569.2:c.164+25150G>A , LRG_411t1:c.164+25150G>A	NP_998734.1:n.164+25150G>A
NM_001173484.2:c.164+25150G>A	NP_001166955.1:n.164+25150G>A
NM_001377322.1:c.164+25150G>A	NP_001364251.1:n.164+25150G>A
NM_001377323.1:c.116+25150G>A	NP_001364252.1:n.116+25150G>A
NM_001377324.1:c.107+25150G>A	NP_001364253.1:n.107+25150G>A
NM_001377325.1:c.98+25150G>A	NP_001364254.1:n.98+25150G>A
NM_001377326.1:c.56+25150G>A	NP_001364255.1:n.56+25150G>A
NM_001377327.1:c.56+25150G>A	NP_001364256.1:n.56+25150G>A
NM_001377328.1:c.56+25150G>A	NP_001364257.1:n.56+25150G>A